ClinVar Miner

List of variants reported as uncertain significance for craniosynostosis by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_006766.5(KAT6A):c.766C>T (p.Arg256Trp) rs1296782375 0.00001
NM_000141.5(FGFR2):c.1960A>G (p.Ile654Val) rs747718232
NM_000474.4(TWIST1):c.325C>G (p.Gln109Glu)
NM_006494.4(ERF):c.226A>G (p.Met76Val)
NM_006766.5(KAT6A):c.752G>A (p.Arg251Gln) rs1824373842

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